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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 2-218675520-C-CTTTT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=218675520&ref=C&alt=CTTTT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 218675520,
"ref": "C",
"alt": "CTTTT",
"effect": "intron_variant",
"transcript": "NM_015690.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.434+65_434+68dupTTTT",
"hgvs_p": null,
"transcript": "NM_015690.5",
"protein_id": "NP_056505.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1315,
"cds_start": null,
"cds_end": null,
"cds_length": 3948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000295709.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015690.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.434+47_434+48insTTTT",
"hgvs_p": null,
"transcript": "ENST00000295709.8",
"protein_id": "ENSP00000295709.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1315,
"cds_start": null,
"cds_end": null,
"cds_length": 3948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015690.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295709.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.434+47_434+48insTTTT",
"hgvs_p": null,
"transcript": "ENST00000392105.7",
"protein_id": "ENSP00000375954.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1294,
"cds_start": null,
"cds_end": null,
"cds_length": 3885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392105.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.434+65_434+68dupTTTT",
"hgvs_p": null,
"transcript": "NM_001369423.1",
"protein_id": "NP_001356352.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1315,
"cds_start": null,
"cds_end": null,
"cds_length": 3948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369423.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.434+47_434+48insTTTT",
"hgvs_p": null,
"transcript": "ENST00000440309.5",
"protein_id": "ENSP00000394095.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1315,
"cds_start": null,
"cds_end": null,
"cds_length": 3948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440309.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.434+47_434+48insTTTT",
"hgvs_p": null,
"transcript": "ENST00000925598.1",
"protein_id": "ENSP00000595657.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000925598.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 5,
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"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.434+47_434+48insTTTT",
"hgvs_p": null,
"transcript": "ENST00000870277.1",
"protein_id": "ENSP00000540336.1",
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870277.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.434+47_434+48insTTTT",
"hgvs_p": null,
"transcript": "ENST00000925594.1",
"protein_id": "ENSP00000595653.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1306,
"cds_start": null,
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"cds_length": 3921,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925594.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 5,
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"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.434+65_434+68dupTTTT",
"hgvs_p": null,
"transcript": "NM_001243313.2",
"protein_id": "NP_001230242.1",
"transcript_support_level": null,
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},
{
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"consequences": [
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],
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"gene_symbol": "STK36",
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},
{
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],
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},
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},
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},
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],
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"transcript": "ENST00000455724.5",
"protein_id": "ENSP00000400055.1",
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"aa_end": null,
"aa_length": 74,
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"cds_end": null,
"cds_length": 227,
"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455724.5"
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{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 5,
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"gene_symbol": "STK36",
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"hgvs_c": "n.*129_*130insTTTT",
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"transcript": "ENST00000473557.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000473557.1"
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],
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"dbsnp": "rs33970984",
"frequency_reference_population": 0.000055746408,
"hom_count_reference_population": 0,
"allele_count_reference_population": 64,
"gnomad_exomes_af": 0.0000590399,
"gnomad_genomes_af": 0.0000261197,
"gnomad_exomes_ac": 61,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.01,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_015690.5",
"gene_symbol": "STK36",
"hgnc_id": 17209,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.434+65_434+68dupTTTT",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}